Richieri Costa-Pereira syndrome
Richieri Costa-Pereira syndrome
Definition
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
Also known as Richieri Costa-Pereira syndrome, short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome, short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome — per MONDO